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    IGF2R insulin like growth factor 2 receptor [ Homo sapiens (human) ]

    Gene ID: 3482, updated on 10-Dec-2024

    Summary

    Official Symbol
    IGF2Rprovided by HGNC
    Official Full Name
    insulin like growth factor 2 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:5467
    See related
    Ensembl:ENSG00000197081 MIM:147280; AllianceGenome:HGNC:5467
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPR1; MPRI; CD222; CIMPR; M6P-R; MPR300; CI-M6PR; MPR 300; M6P/IGF2R
    Summary
    This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in spleen (RPKM 12.4), fat (RPKM 11.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See IGF2R in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159969082..160111504)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (161215266..161357599)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160390114..160532536)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160240240-160240966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160242614-160243420 Neighboring gene PARN like ribonuclease domain containing exonuclease 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160251537-160252270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:160296296-160296948 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160339473-160340672 Neighboring gene MAS1 proto-oncogene, G protein-coupled receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160399030-160400020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160401011-160402001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25399 Neighboring gene Sharpr-MPRA regulatory region 15614 Neighboring gene Sharpr-MPRA regulatory region 12427 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:160408528-160409102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160417106-160417992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160417993-160418878 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160419578-160420777 Neighboring gene antisense of IGF2R non-protein coding RNA Neighboring gene uncharacterized LOC124901451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160498956-160499456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:160532738-160533326 Neighboring gene uncharacterized LOC124901452 Neighboring gene CHP1 pseudogene 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:160554924-160556123 Neighboring gene solute carrier family 22 member 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (22 hits/1283 screens)

    Associated conditions

    Description Tests
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-06-07)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-06-07)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 Env (gp160) interacts with IGF2R; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed
    Nef nef HIV-1 Nef ultimately sequesters IGF2 (CI-M6PR) in post Golgi compartments by disrupting the Rab9-GCC2 interaction (Rab9-GCC2 interaction recycles IGF2R from late endosome to trans Golgi network) in HEK-293 and Jurkat T cells PubMed
    capsid gag IGF2R co-localizes with HIV-1 CA in macrophages and microglia and plays a significant role in microglia as a positive regulator of HIV-1 replication PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-mannose binding  
    enables G-protein alpha-subunit binding  
    enables enzyme binding  
    enables identical protein binding PubMed 
    enables insulin-like growth factor II binding  
    enables insulin-like growth factor binding  
    enables insulin-like growth factor receptor activity PubMed 
    enables phosphoprotein binding PubMed 
    enables protein binding PubMed 
    enables protein binding PubMed 
    enables retinoic acid binding  
    enables retromer complex binding PubMed 
    enables signaling receptor activity PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway  
    involved_in animal organ regeneration  
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in liver development  
    involved_in lysosomal transport  
    involved_in positive regulation by host of viral process PubMed 
    involved_in positive regulation of apoptotic process  
    involved_in post-embryonic development  
    involved_in receptor-mediated endocytosis PubMed 
    involved_in response to retinoic acid  
    involved_in response to tetrachloromethane  
    involved_in signal transduction PubMed 
    involved_in spermatogenesis  
    Items 1 - 20 of 24
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi membrane  
    located_in cell surface PubMed 
    part_of clathrin coat  
    located_in clathrin-coated endocytic vesicle membrane  
    located_in early endosome PubMed 
    located_in endocytic vesicle PubMed 
    located_in endosome PubMed 
    located_in endosome membrane PubMed 
    located_in extracellular exosome PubMed 
    located_in focal adhesion PubMed 
    is_active_in late endosome  
    located_in late endosome PubMed 
    located_in membrane PubMed 
    located_in nuclear envelope lumen  
    located_in perinuclear region of cytoplasm  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in secretory granule membrane  
    is_active_in trans-Golgi network  
    located_in trans-Golgi network PubMed 
    located_in trans-Golgi network membrane  
    located_in trans-Golgi network transport vesicle PubMed 
    located_in transport vesicle  
    Items 1 - 20 of 24

    General protein information

    Preferred Names
    cation-independent mannose-6-phosphate receptor
    Names
    300 kDa mannose 6-phosphate receptor
    CI Man-6-P receptor
    IGF-II receptor
    M6P/IGF2 receptor
    insulin-like growth factor II receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011785.4 RefSeqGene

      Range
      4984..147406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1036

    mRNA and Protein(s)

    1. NM_000876.4 → NP_000867.3  cation-independent mannose-6-phosphate receptor precursor

      Status: REVIEWED

      Source sequence(s)
      AL035691, AL353625
      Consensus CDS
      CCDS5273.1
      UniProtKB/Swiss-Prot
      P11717, Q7Z7G9, Q96PT5
      UniProtKB/TrEMBL
      Q59EZ3
      Related
      ENSP00000349437.1, ENST00000356956.6
      Conserved Domains (3) summary
      cd00062
      Location:1897 → 1942
      FN2; Fibronectin Type II domain: FN2 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and ...
      pfam00878
      Location:423 → 573
      CIMR; Cation-independent mannose-6-phosphate receptor repeat
      cl39051
      Location:1250 → 1365
      ATG27; Autophagy-related protein 27

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      159969082..160111504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      161215266..161357599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487330.1 RNA Sequence

    2. XR_008487329.1 RNA Sequence

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